Linked Data
ClinVar Variation Id:
493510
ClinVar RCV Id:
RCV000585219
dbSNP Id:
rs775759727
ExAC:
X:29417373 A / C
gnomAD v2:
X-29417373-A-C
gnomAD v3:
X-29399256-A-C
gnomAD v4:
X-29399256-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29399256A>C , CM000685.2:g.29399256A>C | GRCh38 |
| NC_000023.10:g.29417373A>C , CM000685.1:g.29417373A>C | GRCh37 |
| NC_000023.9:g.29327294A>C | NCBI36 |
| NG_008292.1:g.816693A>C | |
| NG_008292.2:g.816693A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.651A>C MANE Select | ENSP00000368278.1:p.Glu217Asp | |
| ENST00000378993.5:c.651A>C | ENSP00000368278.1:p.Glu217Asp | |
| NM_014271.3:c.651A>C | NP_055086.1:p.Glu217Asp | |
| XM_005274441.1:c.651A>C | XP_005274498.1:p.Glu217Asp | |
| XM_011545445.1:c.651A>C | XP_011543747.1:p.Glu217Asp | |
| XM_017029240.1:c.651A>C | XP_016884729.1:p.Glu217Asp | |
| XM_017029241.1:c.273A>C | XP_016884730.1:p.Glu91Asp | |
| NM_014271.4:c.651A>C MANE Select | NP_055086.1:p.Glu217Asp |